Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

BACKGROUND: Variants of several genes encoding transcription modulators, signal transduction, and structural proteins are known to cause Mendelian congenital heart disease (CHD). NKX2-5 and GATA4 were the first CHD-causing genes identified by linkage analysis in large affected families. Mutations of...

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Hlavní autoři: Granados-Riveron, Javier T, Pope, Mark, Bu'Lock, Frances A, Thornborough, Christopher, Eason, Jacqueline, Setchfield, Kerry, Ketley, Ami, Kirk, Edwin P, Fatkin, Diane, Feneley, Michael P, Harvey, Richard P, Brook, J David
Médium: Artigo
Jazyk:Inglês
Vydáno: Blackwell Publishing Inc 2012
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370385/
https://ncbi.nlm.nih.gov/pubmed/22011241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1747-0803.2011.00573.x
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